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Ch. 65 Flashcards

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1
Q

Skeletal dysplasia

A

Term used to describe abnormal growth and density of cartilage and bone

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2
Q

Refers to disproportionately short stature

A

Dwarfism

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3
Q

Dwarfism occurs secondary to

A

Skeletal dysplasia

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4
Q

True or false

Some skeletal dysplasia are incompatible with life

A

True

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5
Q

Lethal forms of skeletal dysplasia are _ in prenatal forms

A

Extremely severe

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6
Q

Non-lethal skeletal dysplasias tend to manifest in __ forms

A

Milder

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7
Q

When a skeletal dysplasia is suspected the protocol should be to include

A
  1. Assess limb shortening
  2. Assess bone contour
  3. Estimate degree of ossification
  4. Evaluate TC and shape
  5. Survey for coexistence hand and foot anomalies
  6. Evaluate face and profile
  7. Survey other associated anomalies
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8
Q

Skeletal dysplasia is suspected when

A

limb lengths fall more than 2 standard deviations below the mean

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9
Q

Rhizomelia

A

Shortening of the proximal bone segment (humerus and femur)

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10
Q

Mesomelia

A

Shortening of the middle segments (radius/ulna and tibia/fibula)

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11
Q

Micromelia

A

Shortening of the entire extremity

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12
Q

Most common lethal skeletal dysplasia

A

Thanatophoric dysplasia

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13
Q

Term thanatophoric comes from Greek word _ meaning _

A

Thanatos

Death personified

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14
Q

Thanatophoric dysplasia Type 1

A

Short, curved femurs, flat vertebral bodies

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15
Q

Thanatophoric dysplasia Type 2

A

Short, straight femurs, flat vertebral bodies, cloverleaf skull

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16
Q

Clover leaf skull aka

A

Kleeblattschadel

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17
Q

Thanatophoric dysplasia: Why do most infants die shortly after birth

A

Due to pulmonary hypoplasia resulting from a narrow thorax

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18
Q

Sono: thanatophoric dysplasia (10)

A 
Severe micromelia
Cloverleaf skull
Narrowed thorax w/ shortened ribs
Protuberant abdomen
Frontal bossing
Hypertelorism
Flat vertebral bodies (platyspondlyly)
Severe polyhydramnios 
Hydrocephalus
Non immune hydrops
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19
Q

Most common non lethal skeletal dysplasia

A

Achondroplasia

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20
Q

Achondroplasia results from _ which _

A

decreased endochondral bone formation

produces short, squat bones

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21
Q

Causes of achondroplasia

A

Most commonly: results from spontaneous mutation

  • can be transmitted in autosomal fashion
  • advanced paternal age increases the risk
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22
Q

Heterozygous achondroplasia is inherited _

A

By one parent

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23
Q

Heterozygous achondroplasia has _ survivable rates

A

Good

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24
Q

Intelligence and life span of heterozygous achondroplasia

A

Normal

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25
Health problems that may be included with heterozygous achondroplasia are _ and may require _
Neurological complications | May require orthopedic of neurological surgical intervention
26
Homozygous achondroplasia is inherited by
2 parents
27
Homozygous achondroplasia is (mortality)
Lethal | Most infants die shortly after birth
28
Why do most infants with homozygous achondroplasia die shortly after birth
Respiratory complications
29
With homozygous achondroplasia the thorax is
Narrow
30
Sono achondroplasia
``` o Rhizomelia o macrocephaly o Trident hands [short proximal & middle phalanges] o Depressed nasal bridge o Frontalbossing o Mild ventriculomegaly ```
31
Achondrogenesis
Rare Caused by cartilage abnormalities which result in abnormal bone formation & hypomineralization
32
Achondrogenesis type 1
Most severe
33
Achondrogenesis type 1 Is transmitted in
Autosomal recessive mode
34
Achondrogenesis type 2
Less severe | More common
35
Achondrogenesis type 2 result of
Spontaneous mutation
36
Achondrogenesis is _ (mortality)
Lethal | Infants either being stillborn or die shortly after birth
37
Why is achondrogenesis lethal
Pulmonary hypoplasia
38
Sono achondrogenesis
``` o Severe micromelia * o Decreased or absent ossification of the spine oMacrocephaly* o Short trunk o Short thorax & short ribs o Micrognathia* o Polyhydramnios o Hydrops possibly identified ```
39
Osteogenesis Imperfecta
``` Rare disorder of collagen leading to brittle bones Manifestation in teeth skin ligaments Blue sclera (blue tint to the whites of the eyes) ```
40
Osteogenesis Imperfecta: mildest forms
1 & 4
41
Osteogenesis Imperfecta: autosomal dominant transmission
Types 1 & 4
42
Osteogenesis Imperfecta: Transmitted in autosomal-dominant or autosomal-recessive manner
Type 3
43
Osteogenesis Imperfecta: Most severe/lethal
Type 2
44
Osteogenesis Imperfecta: Inherited autosomal dominant or autosomal recessive or may result from spontaneous mutation
Type 2
45
Normal ossification should be done by
18 weeks
46
Osteogenesis imperfecta: Prognosis: Children with type 1 &4
May be short (stature) | Multiple fractures
47
Osteogenesis imperfecta: Prognosis: Type 1
May also suffer from kyphoscoliosis & deafness
48
Osteogenesis imperfecta: Prognosis: Type 3
May produce significant handicaps | Due to the severity of the brittle bones and multiple fracture
49
Osteogenesis imperfecta: Prognosis: Type 2
Die shortly after birth | Due to respiratory complications
50
Sono: osteogenesis imperfecta
Increased nuchal translucency in the 1st trimester Compressible skull bones Multiple fractures leaves bones bowed, thickened, or sharply angulated Polyhydramnios
51
Sono: osteogenesis imperfecta specifically type 2
Generalized hypomineralization of bones, especially the skull Multiple fractures of: Long bones Ribs Spine ▪Narrow thorax ▪Micromelia
52
Congenital Hypophosphatasia
Diffuse hypomineralization of bone
53
Congenital Hypophosphatasia: caused by
alkaline phosphatase deficiency
54
Congenital Hypophosphatasia: diagnosis is confirmed with
an alkaline phosphatase assay achieved through any of these means: ▪Fetal blood sampling ▪chorionic villus sampling ▪DNA analysis
55
Congenital Hypophosphatasia is a _ condition
Inherited Autosomal-recessive
56
Congenital hypophosphatasia has similar features to _ & _
Osteogenesisi imperfecta and achondrogenesis
57
Congenital hypophosphatasia: Prognoisis
Lethal | Infants usually die shortly after birth due to respiratory complications
58
Sono: Congenital hypophosphatasia
``` Diffuse hypomineralization of the bones Moderate to severe micromelia Extremities that may be: ▪Bowed ▪Fractured ▪Absent Poorly ossified cranium with well visualized brain structures Small thoracic cavity ```
59
Diastropic Dysplasia is characterized by
``` Micromelia Talipes Cleft palate Micrognathia Scoliosis Short stature Earlobe deformities Hand abnormalities ```
60
Diastropic Dysplasia is a _ disorder
Inherited autosomal recessive
61
Diastropic Dysplasia: prognosis
Not lethal disorder Respiratory complications Orthopedic abnormalities can cause significant handicap
62
Diastropic Dysplasia: prognosis: | Most patients have _ life span and _ intelligence
Normal | Normal
63
Sono: Diastropic Dysplasia
``` Micromelia Clubfoot Fixed abducted thumb (hitch hiker thumb)* Scoliosis Micrognathia Cleft palate ```
64
Camptomelic Dysplasia AKA
Bent bone dysplasia
65
Camptomelic Dysplasia is characterized by
Bowing of the long bones
66
Camptomelic Dysplasia is a _ mutation
spontaneous
67
Camptomelic Dysplasia is a _ disorder
Inherited autosomal-recessive pattern
68
prognosis: | Mosy infants _ due to _.
Lethal die in neonatal period pulmonary hypoplasia
69
Camptomelic Dysplasia: Infants that do survive usually die _
within the first year of life
70
Sono: Camptomelic Dysplasia
``` Bowing of the long bones (lower ext. most severely) Small thorax Hypoplastic fibulas Hypoplastic scapulae Hypertelorism Cleft palate Micrognathia Clubfoot Hydrocephalus Polyhydramnios Hydronephrosis ```
71
Roberts syndrome AKA
pseudothalidomide syndrome
72
Roberts syndrome is characterized by
Phocomelia | Facial anomalies
73
Phocomelia
Absent segment of an extremity | Hands and feet are attached to the body like flippers
74
Roberts syndrome is a _ disorder
Autosomal-recessive disorder
75
Roberts syndrome may present with
associated chromosomal abnormalities
76
Roberts syndrome: Prognosis _ is common Survivors are _
Poor Stillbirth & infant mortality growth restricted & have severe mental retardation
77
Sono Roberts syndrome
Phocomelia with the upper extremities more severely affected Bilateral cleft lip & palate Hypertelorism Microcephaly Cardiovascular, renal & GI anomalies may be present
78
Short-Rib Polydactyly Syndrome Prognosis Most infants _ due to _
Lethal die shortly after birth pulmonary hypoplasia
79
Short-Rib Polydactyly Syndrome characterized by
Short ribs Short limbs Polydactyly
80
Short-Rib Polydactyly Syndrome is a_ disorder
Inherited autosomal-recessive disorder
81
Sono: short rib polydactyly
``` Narrow thorax Short ribs Polydactyly Midline facial cleft CNS anomalies Cardiovascular system anomalies GU tract anomalies Polyhydramnios ```
82
Jeune’s Syndrome AKA
asphyxiating thoracic dysplasia
83
Jeune’s Syndrome characterized by
Very narrow thorax
84
Jeune’s Syndrome is a _ disorder
inherited autosomal-recessive disorder
85
Sono: Jeunes syndrome
Small thorax Rhizomelia Renal dysplasia* Polydactyly (less common)
86
Jeunes _ of severity. | Most severe results in _
Range death due to pulmonary hypoplasi
87
Ellis-Van Creveld Syndrome AKA
chondroectodermal dysplasia
88
Increased frequency among Amish communities
Ellis-Van Creveld Syndrome
89
Ellis-Van Creveld Syndrome is a _ disorder
Inherited autosomal-recessive disorder
90
Ellis-Van Creveld Syndrome: presents with
Narrow thorax-causes pulmonary hypoplasia Heart defects- most common is atrial septal defect (ASD)
91
Ellis-Van Creveld Syndrome: about _ die during infancy due to _
half cardiorespiratory complications
92
Features of Ellis-Van Creveld Syndrome
``` Narrow thorax heart defects Abnormal teeth Hypoplastic nails Thin hair ```
93
Ellis-Van Creveld Syndrome: Survivors have _ intellect and _ stature
Normal | Short
94
Sono: | Ellis-Van Creveld Syndrome
Limb shortening Narrow thorax Polydactyly Heart defects [50%
95
Caudal regression
Range of malformations of the caudal end of the neural tube
96
Caudal regression causes are
unknown
97
Caudal regression is linked to
maternal diabetes
98
Caudal regression: prognosis
Depends on severity
99
Sono: caudal regression
``` Absent sacrum and coccyx Clubfoot Abnormal lumbar vertebrae Pelvic abnormalities Contractures Decreased movement of lower extremities ```
100
Sirenomelia AKA
Mermaid syndrome
101
Sirenomelia is
fusion of the lower extremities
102
_ was considered an extreme form of caudal regression syndrome
Sirenomelia
103
Sirenomelia cause _ Associated with _ May divert blood flow away from _
Vascular hypotension Single umbilical artery The caudal end
104
Sirenomelia associated with
Diabetes Monozygotic twinning Cocaine use
105
Sirenomelia is more common in
Males
106
Sirenomelia: Prognosis due to _
Lethal | associated severe renal anomalies (b/l renal agenesis that results in oligohydramnios and pulmonaary hypoplasia)
107
Sono: sirenomelia
Variable fusion of the lower extremities b/l renal agenesis* Oligohydramnios Single umbilical artery
108
VACTERL assocaition
``` Vertebral defects Anal atresia Cardiac anomalies Tracheoesophageal fistula Renal anomalies Limb dysplasia ```
109
VACTERL is a _ event
Sporadic
110
For VACTERL to be considered, _ must be present
3 anomalies
111
With VACTERL, _ may be identified
single umbilical artery
112
VACTERL-H
Hydrocephalus
113
Athrogryposis Multiplex Congenita _ due to _
Severe contractures of extremities | Abnormal innervation and disorders of muscles and connective tissues
114
Contracture
shortening and hardening of muscles, tendons, or other tissue, often leading to deformity and rigidity of joint
115
Athrogryposis Multiplex Congenita may be _ (occurence)
inherited or spontaneous
116
Sono: Athrogryposis Multiplex Congenita
``` Rigid extremities Flexed arms Hyperextension of the knees Clenched hands Clubfoot Polyhydramnios or oligo Anomalies of the CNS Other facial & renal anomalies Fetal seizures have been seen ```
117
_ & _ anomalies occur with skeletal dysplasia. May be _ or _
Hand and foot | part of a syndrome or isolated event
118
Misc. limb abnormalities: | _ defects may be seen. May be associated with
Amputation Amniotic band syndrome
119
Amelia
Congenital absence of one or more extremities
120
Syndactyly
Fused digits
121
Clindodactyly
Overlapping digits
122
Ectrodactyly
split hand/ Lobster claw deformity
123
Radial ray defects
Hypoplasia or aplasia of the radius and thumb
124
Radial ray defects are associated with
Chromosomal abnormalities (13 & 18) VACTERL association Holt-Oram syndrome Thrombocytopenia w/ absent radi syndrome
125
Talipes AKA
clubfoot
126
Talipes
deformity of the foot and ankle
127
Talipes: _ predominance
Males
128
Rocker bottom foot
Prominent heel and convex sole
129
Rocker bottom foot is associated with
multiple syndromes | chromosomal abnormalities especially trisomy 18

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